rs150726175, NMNAT1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Genomic stability in reprogramming. 23040504 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 GeneticVariation UNIPROT NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 GeneticVariation UNIPROT Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012